Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519786
rs1057519786
0.882 0.160 X 47566722 missense variant C/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519876
rs1057519876
0.882 0.160 X 47566721 missense variant T/G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1023835002
rs1023835002
0.763 0.280 15 44711547 start lost A/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
0.763 0.280 15 44711549 start lost G/A snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
0.763 0.280 15 44711548 start lost T/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.800 1.000 1 2003 2020
dbSNP: rs121913338
rs121913338
0.677 0.400 7 140753354 missense variant T/A;C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913351
rs121913351
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913364
rs121913364
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913366
rs121913366
0.763 0.400 7 140753345 missense variant A/C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.710 1.000 1 2016 2017
dbSNP: rs121913370
rs121913370
0.763 0.360 7 140753393 missense variant T/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs180177040
rs180177040
0.790 0.360 7 140754187 missense variant T/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs397507484
rs397507484
0.752 0.480 7 140753333 missense variant T/A;C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs397516896
rs397516896
0.763 0.360 7 140753355 missense variant C/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs104894340
rs104894340
0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs11547328
rs11547328
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
0.776 0.240 9 21971111 missense variant T/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519882
rs1057519882
0.807 0.200 9 21974678 missense variant C/A snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913385
rs121913385
0.763 0.240 9 21971112 missense variant G/A;C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913386
rs121913386
0.807 0.120 9 21971018 missense variant G/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016